Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000051.3(ATM):c.8268+1G>A

Curation Version - 1.1
Curation History
JSON LD for Version 1.1

CA16619252

420799 (ClinVar)

Gene: ATM

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 9c70c2e8-d591-49b3-bab0-9748934c004f

Approved on: 2022-03-09

Published on: 2022-07-11

HGVS expressions

NM_000051.3:c.8268+1G>A

NM_000051.3(ATM):c.8268+1G>A

NC_000011.10:g.108335962G>A

CM000673.2:g.108335962G>A

NC_000011.9:g.108206689G>A

CM000673.1:g.108206689G>A

NC_000011.8:g.107711899G>A

NG_009830.1:g.118131G>A

NG_054724.1:g.138871C>T

ENST00000278616.9:c.8268+1G>A

ENST00000525056.2:n.2688G>A

ENST00000638786.2:n.966+1G>A

ENST00000682286.1:n.3025+1G>A

ENST00000682302.1:n.2686+1G>A

ENST00000683174.1:n.9752+1G>A

ENST00000683524.1:n.3492+1G>A

ENST00000684152.1:n.3684+1G>A

ENST00000684180.1:n.742+1G>A

ENST00000684447.1:n.4761+1G>A

ENST00000527805.6:c.*3332+1G>A

ENST00000675595.1:c.*3403+1G>A

ENST00000675843.1:c.8268+1G>A

ENST00000278616.8:c.8268+1G>A

ENST00000452508.6:c.8268+1G>A

ENST00000524755.5:n.227-670C>T

ENST00000524792.5:n.4483+1G>A

ENST00000525056.1:n.466G>A

ENST00000525729.5:c.641-26891C>T

ENST00000527531.5:c.*1197-670C>T

ENST00000533979.5:n.480+1G>A

ENST00000615746.4:c.*1197-670C>T

NM_001330368.1:c.641-26891C>T

NM_001351110.1:c.695-670C>T

NM_001351834.1:c.8268+1G>A

NR_147053.2:n.2302-670C>T

NM_001330368.2:c.641-26891C>T

NM_001351110.2:c.695-670C>T

NM_001351834.2:c.8268+1G>A

NM_000051.4:c.8268+1G>A

NR_147053.3:n.2300-670C>T

NM_000051.4(ATM):c.8268+1G>A

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

PM2_Supporting PVS1

BA1 BS1 BP4

Evidence Links 0

Expert Panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

The ATM c.8268+1G>A variant is at a canonical splice position and is expected to produce an NMD-escaping transcript that adversely affects the critical FATKIN domain (PVS1). This variant is absent in the GnomAD v2.1.1 cohort (PM2_Supporting) In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.

PM2_Supporting

Variant is absent in the GnomAD v2.1.1 cohort (PM2_Supporting)

PVS1

The c.8268+1G>A variant is at a canonical splice position and is expected to produce an NMD-escaping transcript that adversely affects the critical FATKIN domain (PVS1).

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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